Mutation Details for c.409delC
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cDNA Name
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c.409delC
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Protein Name
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p.Leu137SerfsX16
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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541delC
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Other Details
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This frameshift mutation is in exon 4 in two CF chromosomes. In both patients the deletion is associated with haplotype B; one patient inherited it from his mother; the other one from his father. Both patients originate from Lombardy, carry the [delta]F508 mutation on the other chromosome and have severe pancreatic deficiency. The mutation (the deletion of C at 541) has not been foun in 58 other non-[delta]F508 Italian CF chromosomes and 20 normal chromosomes tested.
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Contributors
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Goossens M,
Fanen P,
Cremonesi L,
Belloni E
1992-03-09
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Institute
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Istituto di Ricovero e Cura a Carattere Scientifico
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Submitted Phenotype Details
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The mutation was identified in 2 male patient (17 years old), twins, diagnosed at 1 month of age with CF, PI, with mild pulmonary symptoms (FEV1 87%) and sweat chloride 128 mmol/l, also diagnosed with ABPA and liver disease. DeltaF508 was found on the other allele. (pers corr. Cremonesi and Cremonesi et al. 1992)
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Reference
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Cremonesi et al., 1992
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